Topic: disease mechanisms

Recognises original chemistry advancing probes of biological function in cells or organisms, including biomolecules, pathways and disease mechanisms. The award provides USD 250,000, a medal and a certificate. Nominations close 3 December 2026.

This lecture reviews genetic explanations for single-gene disorders through Mendelian inheritance and examples such as achondroplasia. Whole-genome sequencing helps identify causal variants, while comparisons of rare and common mutations illuminate disease mechanisms. The discussion also considers what transcriptomic and proteomic measurements add to clinical genetic investigation.